12. Abbreviations

AAAS

achalasia-addisonianism-alacrima syndrome

ABCC6

ATP-binding cassette, subfamily C, member 6

ABCR

ATP-binding cassette transporter, retina-specific

ACHM

achromatopsia

AD

autosomal dominant

adRP

autosomal dominant retinitis pigmentosa

AIPL1

arylhydrocarbon-interacting receptor protein-like 1

ALMS1

Alström syndrome

AP3B1

adaptin beta-3a

APC

adenomatous polyposis of the colon

AQPO

aquaporin O

AR

autosomal recessive

ARCC

autosomal recessive congenital cataracts

ARMD

age-related macular degeneration

arRP

autosomal recessive retinitis pigmentosa

ASMD

anterior segment mesenchymal dysgenesis

ASOD

anterior segment ocular dysgenesis

BBS

Bardet-Biedl syndrome

BCNS

basal cell nevus syndrome

BIGH3

beta-Ig-H3

BPES

blepharophimosis, ptosis and epicanthus inversus

CAL

café-au-lait

CBS

cystathionine beta synthase

CFEOM

congenital fibrosis of extraocular muscles

CHM

choroideremia

CHRPE

congenital hypertrophic lesions of the retinal pigment

epithelium

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CHS1

Chediak-Higashi syndrome

CHST6

carbohydrate sulfotransferase 6

CKN

Cockayne syndrome

CLN3

ceroid lipofuscinosis type 3

CNGA3

cyclic nucleotide-gated cation channel, alpha subunit

CNGB3

cyclic nucleotide-gated cation channel, beta subunit

CNS

central nervous system

COD3

cone dystrophy 3

COH1

Cohen syndrome

COL8A2

collagen type VIII, alpha 2

CPD IV

cerebelloparenchymal disorder IV

CRALBP

cellular retinaldehyde-binding protein

CRD

cone-rod dystrophy

CREBBP

CREB-binding protein

CRYBA1

αB1 crystallin

CRYBB2

βB2 crystalin

CRYG3

γ3 crystallin

CRYGD

γD crystallin

CSNB

congenital stationary night blindness

CTNS

cystinosin

CVS

chorionic villus sampling

CX

connexin

CXR

chest x-ray

CYP1B1

cytochrome P450B1

DHRD

Doyne honeycomb retinal dystrophy

DMPK

dystrophia myotonica protein kinase

DNA

deoxyribonucleic acid

Abbreviations

335

DOA

dominant optic atrophy

ECG

electrocardiogram

EFEMP1

EGF-containing fibrillin-like extracellular matrix protein 1

EGF

epidermal growth factor

ELOVL4

elongation of very long-chain fatty acids-like gene 4

EOG

electro-oculogram

ERG

electroretinogram

ES

embryonic stem

ESCS

enhanced S-cone syndrome

EVR1

exudative vitreoretinopathy 1

FAP

familial adenomatous polyposis

FBN1

fibrillin 1

FECD

Fuchs’ endothelial corneal dystrophy

FEOM

fibrosis of extraocular muscles

FEVR

familial exudative vitreoretinopathy

FOXC1

forkhead box C1

FOXE3

forkhead box E3

FOXL2

forkhead transcription factor

FTL

ferritin light chain

GALK

galactokinase

GALT

galactosidase galactose-1-phosphate uridyltransferase

GI

gastrointestinal

GLUT-1

glucose transporter-1

GPCR

G protein-coupled receptor

GPDS

glaucoma-related pigment dispersion syndrome

GRT

giant retinal tears

GUCA1A

guanylate cyclase activator 1A

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GUCY2D

guanylate cyclase 2D

HESX1

homeobox gene expressed in ES cells

HEXA

hexosaminidase A

HEXB

hexosaminidase B

HIF-1

hypoxia-inducible factor-1

HPS

Hermansky-Pudlak syndrome

ICE

iridocorneal endothelial

IGDA

iridogoniodysgenesis anomaly

IP2

incontinentia pigmenti type II

IRE

iron responsive element

IRID1

iridogoniodysgenesis type I

IRP

iron responsive protein

JBTS

Joubert syndrome

KRT12

keratin 12

KRT3

keratin 3

kDa

kilo Dalton

KERA

keratocan

KNO

Knobloch syndrome

KSPG

keratan sulfate proteoglycans

KSS

Kearns-Sayre syndrome

LCA

Leber congenital amaurosis

LCD

lattice corneal dystrophy

LHON

leber hereditary optic neuropathy

LMX1B

LIM homeo box transcription factor 1, beta

LRR

leucine-rich repeat

LYST

lysosomal trafficking regulator

MASS

Mitral valve prolapse, mild Aortic root dilatation,

Skin involvement striae and Skeletal findings

Abbreviations

337

MELAS

mitochondrial encephalopathy, lactic acidosis and stroke

MFS

Marfan syndrome

MIM

Mendelian inheritance in man

MIP

major intrinsic protein

MKKS

McKusick-Kaufman Syndrome

MLVT

malattia leventinese

MPS

mucopolysaccharidoses

MRI

magnetic resonance imaging

MRP6

multidrug resistance protein 6

mtDNA

mitochondrial DNA

MYO7A

myosin VIIa

MYOC

myocilin

NARP

neuropathy, ataxia and retinitis pigmentosa

NBCCS

nevoid basal cell carcinoma syndrome

NEMO

NFκB essential modulator

NF1

neurofibromatosis type I

NF2

neurofibromatosis type II

NHS

Nance-Horan syndrome

NPS

nail-patella syndrome

NR2E3

nuclear receptor subfamily 2, group E, member 3

OA1

ocular albinism type 1

OAT

ornithine aminotransferase

OCA

oculocutaneous albinism

ONCR

optic nerve coloboma with renal disease

ONH

optic nerve hypoplasia

OPA1

optic atrophy 1

P

pink-eye gene,

PAX2

paired box gene 2

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PAX6

paired box gene 6

PHYH

phytanoyl-CoA hydroxylase

PKD

polycystic kidney disease

PITX2

paired-like homeodomain transcription factor 2

PITX3

paired-like homeodomain transcription factor 3

POAG

primary open angle glaucoma

PPCD

posterior polymorphous dystrophy

PPRPE

preserved para-arteriolar retinal pigment

PTCH

patched gene

pVHL

VHL protein

PXE

pseudoxanthoma elasticum

Rab-GGTase

Rab geranylgeranyl transferase

RB

retinoblastoma

RDH5

retinol dehydrogenase 5

RDS

retinal degeneration slow

REP-1

Rab escort protein 1

RHO

rhodopsin

RHOK

rhodopsin kinase

RLBP1

retinaldehyde-binding protein 1

RNA

ribonucleic acid

ROM1

rod outer segment protein 1

RP

retinitis pigmentosa

RPA

retinitis punctata albescens

RPE65

retinal pigment epithelium-specific protein, 65 kDa

RPX

Rathke pouch homeobox

RRD

rhegmatogenous retinal detachment

rRNA

ribosomal ribonucleic acid

RS1

X-linked retinoschisis

Abbreviations

339

RSTS

Rubinstein-Taybi syndrome

SAG

S-antigen

SCH

schwannomin

SFD

Sorsby pseudoinflammatory fundus dystrophy

SLRP

small leucine-rich proteoglycan

SOD

septo-optic dysplasia

SRNVM

subretinal neovascular membrane

STGD

Stargardt disease

STL

Stickler syndrome

TGFBI

transforming growth factor, beta-induced

TGF-β

transforming growth factor beta

TIGR

trabecular meshwork-induced glucocorticoid response

TIMP3

tissue inhibitor of metalloproteinase 3

tRNA

transfer RNA

TRP1

tyrosine-related protein 1

TSC

tuberous sclerosis complex

TYR

tyrosinase

UBO

unidentified bright object

VA

visual acuity

VEGF

vascular endothelial growth factor

VHL

von Hippel-Lindau syndrome

VMD

vitelliform macular dystrophy

WAGR

Wilms’ tumor, Aniridia, Genitourinary abnormalities

and mental Retardation

WBC

white blood cell

WFS

Wolfram syndrome

XLRP

X-linked retinitis pigmentosa

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